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1.
Med Clin North Am ; 103(6): 1005-1019, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582001

RESUMO

Heritable thoracic aortic disease (HTAD) can have life-threatening consequences if not diagnosed early. Affected individuals and at-risk family members benefit from both cardiology and genetic evaluations, including genetic testing. Important information can be obtained through family history, medical history, and genetic testing to help guide management and assess risk. A genetic diagnosis can guide cardiovascular management (type and frequency of vascular imaging, timing of surgical intervention), risk assessment for arterial aneurysm/dissection, evaluation of nonvascular features, and familial testing.


Assuntos
Aorta Torácica/anormalidades , Doenças da Aorta , Testes Genéticos/métodos , Administração dos Cuidados ao Paciente/métodos , Doenças da Aorta/genética , Doenças da Aorta/terapia , Humanos , Medicina de Precisão/métodos
2.
Med Clin North Am ; 103(6): 1035-1054, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582003

RESUMO

Neurofibromatosis type 1 (NF1), NF2, and schwannomatosis are related, but distinct, tumor suppressor syndromes characterized by a predilection for tumors in the central and peripheral nervous systems. NF1 is one of the most common autosomal dominant conditions of the nervous system. NF1 has a high degree of variability in clinical presentation, which may include multiple neoplasms as well as cutaneous, vascular, bony, and cognitive features. Some of these manifestations overlap with other genetic conditions. Accurate diagnosis of NF1 is important for individualizing clinical care and genetic counseling. This article summarizes the clinical features, diagnostic work-up, and management of NF1.


Assuntos
Testes Genéticos/métodos , Neurilemoma/diagnóstico , Neurofibromatoses/diagnóstico , Neurofibromatose 1 , Neoplasias Cutâneas/diagnóstico , Diagnóstico Diferencial , Gerenciamento Clínico , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia
3.
Med Clin North Am ; 103(6): 1055-1075, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582004

RESUMO

This article presents a nongeneticist's guide to understanding the genetics of Parkinson disease (PD), including clinical diagnostic criteria, differential diagnoses, symptom management, when to suspect a hereditary factor, a summary of autosomal dominant and recessive PD genes, and proposed algorithm for genetic testing. There is increasing availability of genetic testing for PD but there are few recommendations on how these tests should be used in clinical practice. This article guides clinicians on the overall management of patients with PD, with emphasis on determining which patients should have genetic testing and how to interpret the results.


Assuntos
Testes Genéticos/métodos , Doença de Parkinson , Algoritmos , Gerenciamento Clínico , Predisposição Genética para Doença , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/genética , Doença de Parkinson/terapia
4.
Med Clin North Am ; 103(6): 1077-1092, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582005

RESUMO

Compared to clinicians previously surveyed, primary care providers employed in a health system known for clinical genomics were more likely to have ordered or referred a patient for genetic testing, but had only modestly more genetics training and reported similarly low levels of comfort answering patient questions about genetic risk. Most supported population genomic screening, reported willingness to get screened themselves, and judged a hypothetical patient's decision to be screened favorably relative to a similar patient's decision to decline screening. Stakeholder perceptions of the ethical appropriateness of nudging at-risk patients to discuss testing with counselors were mixed.


Assuntos
Aconselhamento Genético , Testes Genéticos/métodos , Atenção Primária à Saúde , Aconselhamento Genético/ética , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Humanos , Medicina de Precisão/métodos , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/tendências , Sequenciamento Completo do Exoma
5.
Med Clin North Am ; 103(6): 957-966, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31582006

RESUMO

The collection of family history has always been a tool for genetic evaluation, but it remains an essential tool even in the age of genomic medicine. Patients may have a risk for a disease based on family history regardless of the results of genetic and genomic tests. How this information is collected is less important than that relevant information is collected in the first place. There are many tools for collecting medical and family history information both by hand and electronically. Genetic and genomic testing should always be interpreted in the context of the personal and family history.


Assuntos
Testes Genéticos/métodos , Anamnese/métodos , Medicina de Precisão , Humanos , Linhagem , Medição de Risco
6.
Medicine (Baltimore) ; 98(39): e17305, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574858

RESUMO

Until now, the recognition of sodium taurocholate cotransporting polypeptide (NTCP) deficiency has been mainly based on sporadic case reports. It was previously believed to be mildly symptomatic and resulting in mild liver dysfunction. However, to our knowledge, there have been no reports about the histopathologic and ultrastructural pathologic characteristics of the disease. The aim of the study was to analyze the clinical, histopathologic and ultrastructural pathologic characteristics of NTCP deficiency in 13 pediatric patients.From August 2012 to October 2018, this retrospective study conducted in the Department of Pediatrics of Tongji Hospital, China analyzed the data of 13 NTCP deficient patients with an SLC10A1 gene mutation. Except for NTCP deficiency, no other liver diseases were present in the patients, which was determined by both a genetic testing panel for jaundice and by reviewing medical records. The laboratory results, imaging, histopathologic, and ultrastructural pathologic information were recorded for analysis.The serum level of total bile acid was high in all 13 patients. All patients had adequate growth and development. Eight of the patients (8/13) presented with visible jaundice and 12 (12/13) were found to have hyperbilirubinemia. A needle liver biopsy was performed in 11 cases, which revealed slightly chronic inflammation in all 11 patients. One of the patients (1/13) was found to be suffering from gallstones.The data showed that although NTCP deficiency was often asymptomatic, some of the patients showed obvious clinical expressions, such as jaundice. Among the 13 pediatric patients with NTCP deficiency, both the biochemical and histopathologic features were similar to those of mild hepatocellular jaundice. In addition, it was determined that the clinical features in the patient with gallstones may have been caused by NTCP deficiency.


Assuntos
Ácidos e Sais Biliares/sangue , Icterícia , Hepatopatias , Fígado , Transportadores de Ânions Orgânicos Dependentes de Sódio , Simportadores , Desenvolvimento Infantil , Pré-Escolar , China/epidemiologia , Testes Genéticos/métodos , Humanos , Biópsia Guiada por Imagem/métodos , Lactente , Icterícia/diagnóstico , Icterícia/etiologia , Fígado/metabolismo , Fígado/patologia , Hepatopatias/diagnóstico , Hepatopatias/genética , Hepatopatias/fisiopatologia , Hepatopatias/terapia , Testes de Função Hepática/métodos , Glicoproteínas de Membrana/metabolismo , Mutação , Transportadores de Ânions Orgânicos Dependentes de Sódio/deficiência , Transportadores de Ânions Orgânicos Dependentes de Sódio/genética , Pediatria/métodos , Estudos Retrospectivos , Simportadores/deficiência , Simportadores/genética
7.
Zhonghua Er Ke Za Zhi ; 57(9): 674-679, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530352

RESUMO

Objective: To examine genetic variants of familial hematuria (FH) associated genes in 3 families with hematuria with probands initially diagnosed with IgA nephropathy (IgAN). Methods: A retrospective analysis was performed on the clinical data, laboratory tests and genetic test results of three children with hematuria and the probands in three families with hematuria. The families were ascertained at the Department of Pediatrics, Fuzhou General Hospital of Nanjing Military Command from August 2014 to May 2018. Results: The proband of Family One, an 8-year-old boy, manifested gross hematuria. His renal biopsy pathology revealed IgAN. His father also manifested hematuria. Genetic testing showed that the proband and his father carried a heterozygous variant of the CFHR5 gene,533A>G (Asn178Ser). The child of Family Two, a 4-year-old girl, manifested hematuria. Her father, the proband of the family, was 36 years old, and manifested hematuria, proteinuria, high-frequency sensorineural deafness and renal insufficiency. He was diagnosed as IgAN according to clinical manifestations, renal pathology and routine immunohistochemistry without renal biopsy electron microscopy, renal tissue type Ⅳ collagen α3, α4, α5 chains immunofluorescence and skin type Ⅳ collagen α5 chain immunofluorescence. Genetic testing showed that the girl carried a heterozygous variant of the COL4A5 gene,566G>T (Gly189Val), and her father carried the hemizygous variant. The child of Family Three, a 7-year-old girl, manifested hematuria and proteinuria. Her mother, the proband of the family, was 34 years old, and manifested hematuria and proteinuria as well. The proband was diagnosed as IgAN by the same method used for Family Two. The girl's grandfather died of uremia at the age of 44. Genetic testing showed that the girl and her mother carried a heterozygous variant 539G>A (Gly180Glu)in COL4A5 gene. Conclusions: The variant of the CFHR5 gene identified in Family One is of uncertain signifance, and the two variants of the COL4A5 gene identified in Families Two and Three are pathogenic. The probands of Families Two and Three are diagnosed as Alport syndrome. The study suggests that clinicians should examine genetic variants of FH associated genes in families with hematuria when the probands were diagnosed as IgAN by their clinical manifestations, renal pathology and routine immunohistochemistry.


Assuntos
Variação Genética/genética , Hematúria/diagnóstico , Nefrite Hereditária/diagnóstico , Adulto , Criança , Pré-Escolar , Feminino , Testes Genéticos/métodos , Glomerulonefrite por IGA/diagnóstico , Glomerulonefrite por IGA/patologia , Hematúria/genética , Humanos , Rim , Masculino , Nefrite Hereditária/genética , Estudos Retrospectivos , Sequenciamento Completo do Exoma
9.
Phys Chem Chem Phys ; 21(37): 20678-20692, 2019 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-31508628

RESUMO

In this work we present a high-throughput approach to the computation of absorption UV-Vis spectra tailored to mutagenesis studies. The scheme makes use of a single molecular dynamics trajectory of a reference (non-mutated) species. The shifts in absorption energy caused by a residue mutation are evaluated by building an effective potential of the environment and computing a correction term based on perturbation theory. The sampling is only performed in the phase space of the initial protein. We analyze the robustness of the method by comparing different approximations for the effective potential, the sampling of mutant residue geometries and observing the impact in the prediction of both bathocromic and hypsochromic shifts. As a test subject, we consider a red fluorescent protein variant with potential biotechnological applications.


Assuntos
Testes Genéticos/métodos , Luz , Proteínas/química , Proteínas/genética , Análise Espectral , Raios Ultravioleta , Simulação de Dinâmica Molecular , Mutação
10.
Arch Endocrinol Metab ; 63(4): 369-375, 2019 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-31365623

RESUMO

OBJECTIVE: Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. MATERIALS AND METHODS: Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. RESULTS: We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. CONCLUSIONS: PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Mutação em Linhagem Germinativa/genética , Paraganglioma/genética , Feocromocitoma/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Humanos , Masculino , Linhagem , Estudos Retrospectivos , Vigilância de Evento Sentinela
11.
Surg Clin North Am ; 99(4): 649-666, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31255197

RESUMO

Primary hyperparathyroidism (PHPT) is a common endocrine disorder, resulting from the autonomous production of parathyroid hormone from 1 or more abnormal parathyroid glands. Disease presentation ranges from asymptomatic to multiorgan involvement (skeletal, renal, neurocognitive, and gastrointestinal). This article outlines the epidemiology, clinical presentation, and diagnostic algorithm for PHPT. Key laboratory assessments are discussed, as are imaging studies for preoperative localization. Indications for surgical intervention are detailed, as are potential indications for surveillance. Sporadic and genetic syndromes associated with PHPT are also described.


Assuntos
Testes Genéticos/métodos , Hiperparatireoidismo Primário/diagnóstico , Glândulas Paratireoides/diagnóstico por imagem , Humanos , Hiperparatireoidismo Primário/cirurgia , Glândulas Paratireoides/cirurgia , Paratireoidectomia , Prognóstico , Reprodutibilidade dos Testes
12.
Genome Biol ; 20(1): 132, 2019 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-31262344

RESUMO

CRISPR-based nucleic acid detection methods are reported to facilitate rapid and sensitive DNA detection. However, precise DNA detection at the single-base resolution and its wide applications including high-fidelity SNP genotyping remain to be explored. Here we develop a Cas12b-mediated DNA detection (CDetection) strategy, which shows higher sensitivity on examined targets compared with the previously reported Cas12a-based detection platform. Moreover, we show that CDetection can distinguish differences at the single-base level upon combining the optimized tuned guide RNA (tgRNA). Therefore, our findings highlight the high sensitivity and accuracy of CDetection, which provides an efficient and highly practical platform for DNA detection.


Assuntos
Sistemas CRISPR-Cas , DNA/análise , Técnicas Genéticas , Testes Genéticos/métodos , Escherichia coli , Humanos , Sensibilidade e Especificidade
14.
Med Oncol ; 36(8): 71, 2019 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-31270633

RESUMO

BRCA1 is involved in double-strand DNA damage repair pathways, and mutations in the gene are associated with hereditary breast and ovarian cancers. With great help of the development of high-throughput DNA sequencing techniques numerous single-nucleotide polymorphisms (SNPs) and insertion deletion (Indel) mutations are detected on both coding and non-coding/regulatory regions of the BRCA1. Mutations may cause pathogenic or benign changes on the protein function or affect its expression. In the last decade, use of genetic screening tests to detect mutations on such genes has become greatly popular. However, it is very important to know the effect of the detected mutations, which is mostly possible by the use of predictive softwares, and also the related family history to be able to correctly analyse the screening results and to inform the patient. Therefore, use of in silico and in vitro techniques to score the pathogenicity of detected variants on genes like BRCA1 is now of great importance. Otherwise, results obtained from screening tests and family history cannot be analysed precisely.


Assuntos
Proteína BRCA1/genética , Genes BRCA1 , Testes Genéticos/métodos , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Neoplasias da Mama/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação INDEL , Neoplasias Ovarianas/genética , Polimorfismo de Nucleotídeo Único
15.
Medicine (Baltimore) ; 98(30): e16566, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31348283

RESUMO

RATIONALE: Cardiac transthyretin amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of clinical manifestations, routine electrocardiogram, echocardiography and the traditional requirement for endomyocardial biopsy confirmation. PATIENT CONCERNS: A 68-year-old female had suffered from lumbago for 5 years with progressive weakness, numbness in both lower limb. DIAGNOSIS: The patient's clinical signs were not specific, but cardiac amyloidosis was suspected based on relative left ventricular apical sparing of longitudinal strain on echocardiography and continuous elevated serum levels of cardiac biomarkers (ultrasensitive cardiac troponin I and NT-proBNP). She was finally diagnosed hereditary transthyretin-related cardiac amylodosis by specific findings of cardiovascular magnetic resonance imaging (CMR), -technetium pyrophosphate (Tc-PYP) scintigraphy and genetic testing. INTERVENTIONS: The patient received medications including diuretics, beta-blockers and angiotensin-converting enzyme inhibitors at the time of hospitalization. Ultimately, however, she refused further treatments and requested discharge from our hospital. OUTCOMES: A series of noninvasive technique enables the diagnosis of hereditary transthyretin-related cardiac amyloidosis. LESSONS: While endomyocardial biopsy is not able to performed, this case demonstrates that a combination of noninvasive techniques, especially CMR, nuclear imaging, and genetic testing, may help us to make a correct diagnosis of hereditary transthyretin-related cardiac amyloidosis.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico , Técnicas de Imagem Cardíaca/métodos , Testes Genéticos/métodos , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Troponina I/sangue , Idoso , Ecocardiografia/métodos , Feminino , Humanos , Imagem por Ressonância Magnética/métodos , Cintilografia/métodos , Compostos Radiofarmacêuticos , Pirofosfato de Tecnécio Tc 99m
16.
Dis Colon Rectum ; 62(7): 832-839, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31188184

RESUMO

BACKGROUND: Mutation analyses provide the basis of selecting an appropriate target agent for the treatment of metastatic colorectal cancer. However, metachronous metastases developed after the treatment of primary tumor could create significant opportunities for different genetic profiles relative to the primary tumors. OBJECTIVE: The purpose of this study was to assess the necessity of genetic evaluation of metachronous metastases; we performed a quantitative analysis of genetic discordance between metachronous metastases and radically resected primary colorectal cancers using next-generation sequencing. DESIGN: This was a retrospective study. SETTINGS: Patients from a single-institution tertiary care center were studied. PATIENTS: We enrolled 33 patients who underwent resection of metachronous metastases between January 2014 and December 2016, ≥6 months after radical resection of primary colorectal cancer and whose tissue was available for analysis. MAIN OUTCOME MEASURES: Tumor samples were analyzed by next-generation sequencing. The mutant allele frequency was analyzed to evaluate the proportion of mutations in the tumor tissue. RESULTS: The mutant allele frequency of KRAS in metachronous metastases was higher in 6 cases (mean difference =% 25.5% (range, 9.5%-58.0%)) and lower in 3 cases (mean difference = 9.3% (range, 8.0-10.0%) compared with each of their primary tumors. In 1 case, the KRAS mutant-type (mutant allele frequency = 22.6%) metachronous metastasis had developed from the KRAS wild-type primary tumor. LIMITATIONS: Tumor sample may not represent perfectly the whole tumor of the patient because of heterogeneity. CONCLUSIONS: Genetic discordance can exist between metachronous metastases and radically resected primary colorectal cancers. For appropriate target therapy, genetic evaluation of metachronous metastases needs to be considered when possible. See Video Abstract at http://links.lww.com/DCR/A932.


Assuntos
Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/terapia , Análise Mutacional de DNA , Intervalo Livre de Doença , Feminino , GTP Fosfo-Hidrolases/genética , Frequência do Gene , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Metástase Neoplásica , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Retrospectivos , Proteína Supressora de Tumor p53/genética
17.
Zhonghua Er Ke Za Zhi ; 57(6): 429-433, 2019 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-31216799

RESUMO

Objective: To explore the clinical value of genetic screening for early identification of WAS gene-related disorders in newborns. Methods: This was a retrospective study. Neonatal Genome Project from Children's Hospital of Fudan University collected 5 800 high-risk newborns in the neonatal intensive care unit to study the patients' genetic causes using high-throughput sequencing from January 2016 to December 2017. Eleven newborns (all were boys) with pathogenic or likely pathogenic variants in WAS gene were enrolled. Data of clinical characteristics,gene variants and genotype-phenotype correlation were collected and summarized. Results: Eleven patients included 5 cases with Wiskott-Aldrich syndrome (WAS) and 6 cases with X-linked thrombocytopenia (XLT).Two patients with WAS developed clinical manifestations in the early neonatal period,and 3 patients in 5-8 weeks after birth. Three neonates with XLT were hospitalized for other diseases in the first place.Their platelet count was found to be reduced after admission to hospital, and diagnosis was made after genetic testing. Eleven pathogenic or likely pathogenic variants in WAS gene were identified. Among them, 7 were first reported in this study, including 2 frame shift variants c.138delG and c.388_390del, 4 splicing variants c.1453+1G>A,c.734+1G>C,c.135G>A and c.1453+3G>C, and 1 missense variant c.1118C>T. The other 4 reported variants were c.777+1G>A,c.107_108delTT, c.436delC and c.1509_*3delAGTG. Conclusions: The clinical features of WAS gene-related disorders in neonatal period lack specificity. Genetic screening in newborns plays an important role in the early diagnosis of diseases and provides providing evidence for the early intervention.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X , Testes Genéticos/métodos , Trombocitopenia/diagnóstico , Proteína da Síndrome de Wiskott-Aldrich/genética , Síndrome de Wiskott-Aldrich/diagnóstico , Criança , Análise Mutacional de DNA , Diagnóstico Precoce , Humanos , Recém-Nascido , Masculino , Mutação , Estudos Retrospectivos , Trombocitopenia/genética , Síndrome de Wiskott-Aldrich/genética
18.
BMC Public Health ; 19(1): 667, 2019 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-31146730

RESUMO

BACKGROUND: Epigenetic markers might be used for risk-stratifying cancer screening and prevention programs in the future. Although the clinical utility of consequent epigenetic tests for risk stratification is yet to be proven, successful adoption into clinical practice also requires the public's acceptance of such tests. This cross-sectional online survey study sought to learn for the first time about European women's perceptions, attitudes, and intended behavior regarding a predictive epigenetic test for female cancer (breast, ovarian, cervical, and endometrial) risks. METHODS: 1675 women (40-75 years) from five European countries (Czech Republic, Germany, United Kingdom, Italy, Sweden), drawn from online panels by the survey sampling company Harris Interactive (Germany), participated in an online survey where they first received online leaflet information on a predictive epigenetic test for female cancer risks and were subsequently queried by an online questionnaire on their desire to know their female cancer risks, their perception of the benefit-to-harm ratio of an epigenetic test predicting female cancer risks, reasons in favor and disfavor of taking such a test, and their intention to take a predictive epigenetic test for female cancer risks. RESULTS: Most women desired information on each of their female cancer risks, 56.6% (95% CI: 54.2-59.0) thought the potential benefits outweighed potential harms, and 75% (72.0-77.8) intended to take a predictive epigenetic test for female cancer risks if freely available. Results varied considerably by country with women from Germany and the Czech Republic being more reserved about this new form of testing than women from the other three European countries. The main reason cited in favor of a predictive epigenetic test for female cancer risks was its potential to guide healthcare strategies and lifestyle changes in the future, and in its disfavor was that it may increase cancer worry and coerce unintended lifestyle changes and healthcare interventions. CONCLUSIONS: A successful introduction of predictive epigenetic tests for cancer risks will require a balanced and transparent communication of the benefit-to-harm ratio of healthcare pathways resulting from such tests in order to curb unjustified expectations and at the same time to prevent unjustified concerns.


Assuntos
Detecção Precoce de Câncer/psicologia , Epigênese Genética , Testes Genéticos/métodos , Conhecimentos, Atitudes e Prática em Saúde , Intenção , Neoplasias/diagnóstico , Neoplasias/genética , Adulto , Idoso , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Estudos Transversais , Neoplasias do Endométrio/diagnóstico , Neoplasias do Endométrio/genética , Europa (Continente) , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Valor Preditivo dos Testes , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/genética
20.
Genet Test Mol Biomarkers ; 23(6): 418-422, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31066583

RESUMO

Aim: Celiac disease (CD) is strongly associated with HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8. Up to 99.7% of all CD patients are positive for either one or two of these genetic markers, demonstrating a high negative predictive value. This has led to the development of diagnostic kits that, instead of providing a full HLA-DQ typing, detect only these three HLA-DQ types. Our aim was to compare three different kits for their performance, utilization, and costs. Because 0.4-3.6% of all CD patients test positive for HLA-DQ7 and negative for the aforementioned types, information provided by the kits regarding DQ7 alpha and beta chains was evaluated as well. Materials and Methods: Fifty DNA samples previously typed with the SSCP method were analyzed using three commercial kits. Results and Discussion: All kits report hetero- or homozygosity for HLA-DQ2.5. The XeliGen kit directly detects HLA-DQ7, but is relatively expensive. The MLPA kit is the least expensive in terms of reagents and may indirectly detect HLA-DQ7. The CeliaSCAN kit is easy to use and provides indirect information about HLA-DQ7.5. Conclusion: All kits correctly identify the CD risk genes. The resources of the laboratory and the intended use should determine the preference for any of the HLA-DQ typing kits herein described.


Assuntos
Doença Celíaca/diagnóstico , Antígenos HLA-DQ/genética , Teste de Histocompatibilidade/métodos , Alelos , Doença Celíaca/genética , Feminino , Frequência do Gene/genética , Marcadores Genéticos , Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Genótipo , Humanos , Masculino , Kit de Reagentes para Diagnóstico , Fatores de Risco
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